Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature.

Autor: Schneider V; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France. vincent.schneider@chu-dijon.fr.; Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism, EA7270/Inserm, University of Burgundy and Franche-Comté, Dijon, Burgundy, France. vincent.schneider@chu-dijon.fr., Dupont G; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France., Madinier G; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France., Ramond F; Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France.; Auragen Multisite Laboratory, GCS Auragen, Plan France Médecine Génomique, Lyon, 2025, France., Lesca G; Auragen Multisite Laboratory, GCS Auragen, Plan France Médecine Génomique, Lyon, 2025, France.; Department of Medical Genetics, competence center for rare neurogenetic diseases, University Hospital of Lyon, Lyon, France., Thauvin-Robinet C; Inserm UMR1231 team GAD 'genetics of developmental abnormalities', University of Burgundy, Dijon, Burgundy, France.; Reference center for rare neurogenetic diseases, Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France.; Functional Unity of innovative diagnosis for rare diseases, Dijon University Hospital, Dijon, Burgundy, France., Thomas Q; Neurology Department, Dijon University Hospital, 14 rue Paul Gaffarel, 21000, Dijon, Burgundy, France.; Inserm UMR1231 team GAD 'genetics of developmental abnormalities', University of Burgundy, Dijon, Burgundy, France.; Reference center for rare neurogenetic diseases, Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France.

Publikováno v: Cerebellum (London, England) [Cerebellum] 2024 Dec; Vol. 23 (6), pp. 2616-2621. Date of Electronic Publication: 2024 Jul 29.

SOCIÈTÉ LYONNAISE DE PHILOSOPHIE

Autor: LACHIEZE-REY, P., MURAT, M., JOLIVET, Chanoine R., MADINIER, G.

Publikováno v: Les Études philosophiques, 1948 Jan 01. 3(1), 79-81.

Externí odkaz: https://www.jstor.org/stable/20841111

THE PREVENTION OF POST-PARTUM RELAPSES WITH PROGESTIN AND ESTRADIOL IN MULTIPLE SCLEROSIS (POPART'MUS) TRIAL: RATIONALE, OBJECTIVES AND STATE OF ADVANCEMENT

Autor: Vukusic, S, Ionescu, I, El Etr, M, Schumacher, M, Baulieu, Ee, Cornu, C, Confavreux, C, Clanet, M, Brassat, D, Viala, F, Moreau, T, Couvreur, G, Madinier, G, Debouverie, M, Laplaud, D, Wiertlewski, S, Clavelou, P, Aufauvre, D, Pelletier, J, Rico Lamy, A, Edan, G, Le Page, E, Rumbach, L, Berger, E, Hautecoeur, P, Lebrun Frenay, C, Labauge, P, Castelnovo, G, Heinzlef, O, Brochet, B, Ouallet, Jc, Clerc, C, Rieu, L, Lauxerois, M, Hinzelin, G, Froment Sallansonnet, M, Stankoff, B, Borgel, F, Toureille Borlet, L, Minier, D, Coustans, M, Tourniaire, P, Durelli, Luca, Tavella, A, Trojano, M, Carrozzo, A, Patti, F, Zaffaroni, M, Motti, L.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______970::80fe79343e6228ad752959dc791536e1
http://hdl.handle.net/2318/82178

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Hemorrhagic stroke in children.

Autor: Askarova, Azhar E., Zhurkabayeva, Bayan D.

Publikováno v: Journal of Central Nervous System Disease; 11/1/2024, p1-17, 17p